MGP Database

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MGP004704

UniProt Annotations

Entry Information
Gene Namephosphatidylinositol glycan anchor biosynthesis, class N
Protein EntryPIGN_HUMAN
UniProt IDO95427
SpeciesHuman
Comments
Comment typeDescription
DiseaseMultiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) [MIM:614080]: An autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age. {ECO:0000269|PubMed:21493957}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionEthanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol precursor of GPI-anchor (By similarity). May act as suppressor of replication stress and chromosome missegregation. {ECO:0000250, ECO:0000269|PubMed:23446422}.
PathwayGlycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis.
SimilarityBelongs to the PIGG/PIGN/PIGO family. PIGN subfamily. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
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